{"id":87828,"date":"2000-12-12T00:00:00","date_gmt":"2000-12-12T00:00:00","guid":{"rendered":"https:\/\/www.deberes.net\/tesis\/sin-categoria\/analisis-genetico-y-molecular-de-la-region-cromosomica-humana-lq31-32-cartografia-identificacion-de-nuevos-genes-e-implicaciones-fisiopatologicas\/"},"modified":"2000-12-12T00:00:00","modified_gmt":"2000-12-12T00:00:00","slug":"analisis-genetico-y-molecular-de-la-region-cromosomica-humana-lq31-32-cartografia-identificacion-de-nuevos-genes-e-implicaciones-fisiopatologicas","status":"publish","type":"post","link":"https:\/\/www.deberes.net\/tesis\/quimica\/analisis-genetico-y-molecular-de-la-region-cromosomica-humana-lq31-32-cartografia-identificacion-de-nuevos-genes-e-implicaciones-fisiopatologicas\/","title":{"rendered":"Analisis genetico y molecular de la region cromosomica humana lq31-32: cartografia, identificacion de nuevos genes e implicaciones fisiopatologicas"},"content":{"rendered":"<h2>Tesis doctoral de <strong>  Diaz Guillen Miguel Angel <\/strong><\/h2>\n<p>En la regi\u00f3n lq31-32 humana, se localiza el agrupamiento g\u00e9nico rca(regulator of complement activation). La familia g\u00e9nica rca comprende genes funcionales que regulan la actividad del complemento y duplicaciones de los mismos, con caracter\u00edsticas de pseudogenes o con funciones diferentes o desconocidas. hemos construido un mapa gen\u00e9tico de esta regi\u00f3n cromos\u00f3mica, analizando un total de 58 marcadores(microsat\u00e9lites y rflps) en 14 familias. Estos estudios gen\u00e9ticos permitieron identificar 2 regiones con elevada recombinaci\u00f3n mei\u00f3tica espec\u00edficas de mujeres (hot spot). Tambi\u00e9n, hemos elaborado un mapa fisico de la regi\u00f3n utilizando paneles de hibridos de radicaci\u00f3n. la integraci\u00f3n del mapa fisico con el mapa gen\u00e9tico ha permitido elaborar un mapa de alta resoluci\u00f3n de la regi\u00f3n, en donde estan posicionados la mayor\u00eda de los genes y marcadores microsat\u00e9lites descritos para esta localizaci\u00f3n cromos\u00f3mico.  mediante secuenciaci\u00f3n de una subregi\u00f3n del sistema rca, se han identificado y caracterizadi 3 nuevos genes:pfkfb2, zf1 y srp-72. El gen zf1 codifica una prote\u00edna de funci\u00f3n desconocida que presenta en su estructura un dominio zinc finger. Este gen se encuentra sobreexpresado en algunos tumores y l\u00edneas celulares.  en la regi\u00f3n 1q31-32 humana, se han descrito alteraciones gen\u00f3mica en una gran variedad de tumores(ganancias o p\u00e9rdidas de material gen\u00e9tico). hemos identificado una regi\u00f3n m\u00ednimo de desequilibrio al\u00e9lico(ai) en c\u00e1ncer de mama comprendida entre los marcadores dis1723-dis1647, que coincide con una regi\u00f3n de elevada recombinaci\u00f3n mei\u00f3tica. Adem\u00e1s, mediante estudios moleculares se ha comprobado que el deseguilibrio al\u00e9lico observado en los tumores analizados est\u00e1 causado por amplificaciones. La amplificaci\u00f3n de la regi\u00f3n lq31-32 en estos tumores es un proceso complejo que implica tanto ganancias de uno s\u00f3lo de los alelos como ganancias de ambos.<\/p>\n<p>&nbsp;<\/p>\n<h3>Datos acad\u00e9micos de la tesis doctoral \u00ab<strong>Analisis genetico y molecular de la region cromosomica humana lq31-32: cartografia, identificacion de nuevos genes e implicaciones fisiopatologicas<\/strong>\u00ab<\/h3>\n<ul>\n<li><strong>T\u00edtulo de la tesis:<\/strong>\u00a0 Analisis genetico y molecular de la region cromosomica humana lq31-32: cartografia, identificacion de nuevos genes e implicaciones fisiopatologicas <\/li>\n<li><strong>Autor:<\/strong>\u00a0  Diaz Guillen Miguel Angel <\/li>\n<li><strong>Universidad:<\/strong>\u00a0 Complutense de Madrid<\/li>\n<li><strong>Fecha de lectura de la tesis:<\/strong>\u00a0 12\/12\/2000<\/li>\n<\/ul>\n<p>&nbsp;<\/p>\n<h3>Direcci\u00f3n y tribunal<\/h3>\n<ul>\n<li><strong>Director de la tesis<\/strong>\n<ul>\n<li>Santiago Rodriguez De Cordoba<\/li>\n<\/ul>\n<\/li>\n<li><strong>Tribunal<\/strong>\n<ul>\n<li>Presidente del tribunal: Antonio Arnaiz villena <\/li>\n<li>Elena Fernandez ruiz (vocal)<\/li>\n<li> Sanchez coral gomez pilar (vocal)<\/li>\n<li>  (vocal)<\/li>\n<\/ul>\n<\/li>\n<\/ul>\n<p>&nbsp;<\/p>\n","protected":false},"excerpt":{"rendered":"<p>Tesis doctoral de Diaz Guillen Miguel Angel En la regi\u00f3n lq31-32 humana, se localiza el agrupamiento g\u00e9nico rca(regulator of complement [&hellip;]<\/p>\n","protected":false},"author":1,"featured_media":0,"comment_status":"open","ping_status":"open","sticky":false,"template":"","format":"standard","meta":{"site-sidebar-layout":"default","site-content-layout":"","ast-site-content-layout":"","site-content-style":"default","site-sidebar-style":"default","ast-global-header-display":"","ast-banner-title-visibility":"","ast-main-header-display":"","ast-hfb-above-header-display":"","ast-hfb-below-header-display":"","ast-hfb-mobile-header-display":"","site-post-title":"","ast-breadcrumbs-content":"","ast-featured-img":"","footer-sml-layout":"","theme-transparent-header-meta":"","adv-header-id-meta":"","stick-header-meta":"","header-above-stick-meta":"","header-main-stick-meta":"","header-below-stick-meta":"","astra-migrate-meta-layouts":"default","ast-page-background-enabled":"default","ast-page-background-meta":{"desktop":{"background-color":"var(--ast-global-color-4)","background-image":"","background-repeat":"repeat","background-position":"center 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